NP_000494.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
60,660 Da
NCBI Official Full Name
eyes absent homolog 1 isoform 1
NCBI Official Synonym Full Names
EYA transcriptional coactivator and phosphatase 1
NCBI Protein Information
eyes absent homolog 1
UniProt Protein Name
Eyes absent homolog 1
NCBI Summary for EYA1
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
UniProt Comments for EYA1
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 ().
Research Articles on EYA1
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Products associated with anti-EYA1 antibody
Pathways associated with anti-EYA1 antibody
Diseases associated with anti-EYA1 antibody
Organs/Tissues associated with anti-EYA1 antibody
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